Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Mendeliome v1.432 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Mendeliome v0.6630 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Mendeliome v0.6630 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Mendeliome v0.6630 PGM1 Zornitza Stark Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV
Mendeliome v0.6629 PGM1 Zornitza Stark Publications for gene: PGM1 were set to
Mendeliome v0.6628 PGM1 Zornitza Stark Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.6627 PGM1 Zornitza Stark reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PGM1 was set to Unknown